Background: Benign, refractory esophageal strictures are an important therapeutic challenge. Metal stents occasionally have been used, but results have been disappointing. The present study assessed the safety and the...Background: Benign, refractory esophageal strictures are an important therapeutic challenge. Metal stents occasionally have been used, but results have been disappointing. The present study assessed the safety and the efficacy of temporary placement of the new expandable polyester silicone-covered stent for management of problematic esophageal strictures. Methods: Fifteen patients with benign esophageal strictures were treated by temporary (6 weeks) placement of an expandable polyester silicone-covered stent. All patients had previously been treated, unsuccessfully, by repetitive endoscopic dilation. Results: Stent placement was successful in all patients. There was no procedure-related complication. Dilation with over-the-guidewire polyvinyl dilators was required before stent placement. With the stent in situ, dysphagia completely resolved in all patients. Six weeks after placement, one stent was found to have migrated into the stomach. In the remaining patients, the stent was easily removed with a foreign body forceps. The pretreatment dysphagia score was 3 (range 24); the post-treatment score was 1 (range 0-1) (p < 0.0005). Long-term resolution (mean follow-up 22.7 [2.6] months) of the stricture was achieved in 12 patients (80%). The treatment failed in 3 patients, all of whom continue to require periodic dilation. Conclusions: In patients with benign esophageal strictures refractory to conventional dilation, temporary placement of a removable expandable polyester silicone-covered stent may lead to long-term relief of dysphagia with minimal morbidity.展开更多
目的总结赖氨酸尿性蛋白耐受不良(lysinuric protein intolerance,LPI)患儿的临床特点及营养治疗。方法回顾性分析中南大学湘雅医院诊断的1例LPI患儿的临床表现、实验室检查及肠内营养治疗过程,并总结复习国内外文献报道的LPI患儿相关...目的总结赖氨酸尿性蛋白耐受不良(lysinuric protein intolerance,LPI)患儿的临床特点及营养治疗。方法回顾性分析中南大学湘雅医院诊断的1例LPI患儿的临床表现、实验室检查及肠内营养治疗过程,并总结复习国内外文献报道的LPI患儿相关资料。结果4岁女童,长期慢性腹胀、腹泻等消化道症状显著,反复肺部感染,生长发育不良,抗感染治疗效果不佳。接受肠内营养治疗后无消化道不适,血红蛋白、白蛋白等有好转,血氨下降。但因病情严重,家属放弃治疗后死亡。目前已报道的LPI患儿(包括该研究报道)有92例,多在断奶或进食辅食后发病,以严重的消化系统症状、营养不良及生长发育落后为特点,仅有50%(46/92)患儿得到规范的营养治疗并有效改善了营养状况。92例患儿中,8例(9%)死亡,其余病例未进行长期随访报道。结论LPI常有消化系统受累进而出现生长发育不良,预后差,营养治疗是该病救治过程中必不可少的治疗手段之一。展开更多
目的探讨一例赖氨酸尿性蛋白耐受不良(Lysinuric Protein Intolerance,LPI)患儿的临床及遗传学特点。方法回顾分析1例LPI患儿的临床特点,通过高通量测序对患儿家系进行基因检测。结果2岁2月,男性患儿,表现为异常哭闹,发育迟缓,身材矮小...目的探讨一例赖氨酸尿性蛋白耐受不良(Lysinuric Protein Intolerance,LPI)患儿的临床及遗传学特点。方法回顾分析1例LPI患儿的临床特点,通过高通量测序对患儿家系进行基因检测。结果2岁2月,男性患儿,表现为异常哭闹,发育迟缓,身材矮小,厌恶蛋白。高通量测序提示SLC7A7基因存在c.625+1G>A和c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)复合杂合变异,分别来自于表型正常的母亲和父亲,c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)为未报道过的变异。结论LPI临床缺乏特异性,厌恶蛋白是本病的一个明显特征,新位点变异扩展了SLC7A7基因变异谱,基因检测是确诊LPI的关键。展开更多
文摘Background: Benign, refractory esophageal strictures are an important therapeutic challenge. Metal stents occasionally have been used, but results have been disappointing. The present study assessed the safety and the efficacy of temporary placement of the new expandable polyester silicone-covered stent for management of problematic esophageal strictures. Methods: Fifteen patients with benign esophageal strictures were treated by temporary (6 weeks) placement of an expandable polyester silicone-covered stent. All patients had previously been treated, unsuccessfully, by repetitive endoscopic dilation. Results: Stent placement was successful in all patients. There was no procedure-related complication. Dilation with over-the-guidewire polyvinyl dilators was required before stent placement. With the stent in situ, dysphagia completely resolved in all patients. Six weeks after placement, one stent was found to have migrated into the stomach. In the remaining patients, the stent was easily removed with a foreign body forceps. The pretreatment dysphagia score was 3 (range 24); the post-treatment score was 1 (range 0-1) (p < 0.0005). Long-term resolution (mean follow-up 22.7 [2.6] months) of the stricture was achieved in 12 patients (80%). The treatment failed in 3 patients, all of whom continue to require periodic dilation. Conclusions: In patients with benign esophageal strictures refractory to conventional dilation, temporary placement of a removable expandable polyester silicone-covered stent may lead to long-term relief of dysphagia with minimal morbidity.
文摘目的总结赖氨酸尿性蛋白耐受不良(lysinuric protein intolerance,LPI)患儿的临床特点及营养治疗。方法回顾性分析中南大学湘雅医院诊断的1例LPI患儿的临床表现、实验室检查及肠内营养治疗过程,并总结复习国内外文献报道的LPI患儿相关资料。结果4岁女童,长期慢性腹胀、腹泻等消化道症状显著,反复肺部感染,生长发育不良,抗感染治疗效果不佳。接受肠内营养治疗后无消化道不适,血红蛋白、白蛋白等有好转,血氨下降。但因病情严重,家属放弃治疗后死亡。目前已报道的LPI患儿(包括该研究报道)有92例,多在断奶或进食辅食后发病,以严重的消化系统症状、营养不良及生长发育落后为特点,仅有50%(46/92)患儿得到规范的营养治疗并有效改善了营养状况。92例患儿中,8例(9%)死亡,其余病例未进行长期随访报道。结论LPI常有消化系统受累进而出现生长发育不良,预后差,营养治疗是该病救治过程中必不可少的治疗手段之一。
文摘目的探讨一例赖氨酸尿性蛋白耐受不良(Lysinuric Protein Intolerance,LPI)患儿的临床及遗传学特点。方法回顾分析1例LPI患儿的临床特点,通过高通量测序对患儿家系进行基因检测。结果2岁2月,男性患儿,表现为异常哭闹,发育迟缓,身材矮小,厌恶蛋白。高通量测序提示SLC7A7基因存在c.625+1G>A和c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)复合杂合变异,分别来自于表型正常的母亲和父亲,c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)为未报道过的变异。结论LPI临床缺乏特异性,厌恶蛋白是本病的一个明显特征,新位点变异扩展了SLC7A7基因变异谱,基因检测是确诊LPI的关键。
